Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.Y278F
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GJA8

NM_005267.5:p.Y278F

Associated Papers

Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.

Andersen PS et al.

European Journal of Human Genetics : Ejhg, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."